Congenital Heart Defect
Gene: ZIC3
Pathogenic loss of function variants reported in >5 patients with heterotaxy
PMID: 27406248; Paulussen 2016: Reported 6 pathogenic variants in a cohort of patients with congenital heart disease including heterotaxy and reviewed previously published cases. Functional studies performed confirming LoF mechanism.
PMID: 30120289; Li 2018: 1 additional hemi missense reported in a male patients inherited from carrier mother.Created: 24 Nov 2023, 12:55 a.m. | Last Modified: 24 Nov 2023, 12:55 a.m.
Panel Version: 0.374
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Heterotaxy, visceral, 1, X-linked (MIM#306955)
Publications
Gene: zic3 has been classified as Green List (High Evidence).
Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked (MIM#306955)
Publications for gene: ZIC3 were set to
Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
gene: ZIC3 was added gene: ZIC3 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZIC3 was set to Unknown